Knowledge base for genomic medicine in Japanese
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フェニルケトン尿症
小児・神経疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000277.3(PAH):c.722del (p.Arg241fs) | PAH | Pathogenic | 12 | 103246713 | 103246713 | GC | G | reviewed by expert panel | ClinVar:402236,ClinGen:CA229717 |
| single nucleotide variant | NM_000277.3(PAH):c.724C>T (p.Leu242Phe) | PAH | Pathogenic | 12 | 103246711 | 103246711 | G | A | reviewed by expert panel | ClinGen:CA229718,UniProtKB:P00439#VAR_000946 |
| single nucleotide variant | NM_000277.3(PAH):c.728G>T (p.Arg243Leu) | PAH | Likely pathogenic | 12 | 103246707 | 103246707 | C | A | reviewed by expert panel | ClinGen:CA229719 |
| single nucleotide variant | NM_000277.3(PAH):c.733G>A (p.Val245Met) | PAH | Pathogenic | 12 | 103246702 | 103246702 | C | T | reviewed by expert panel | ClinGen:CA229722 |
| single nucleotide variant | NM_000277.3(PAH):c.733G>C (p.Val245Leu) | PAH | Pathogenic | 12 | 103246702 | 103246702 | C | G | reviewed by expert panel | ClinGen:CA229724,UniProtKB:P00439#VAR_000951 |
| single nucleotide variant | NM_000277.3(PAH):c.734T>A (p.Val245Glu) | PAH | Pathogenic | 12 | 103246701 | 103246701 | A | T | criteria provided, single submitter | ClinGen:CA229725,UniProtKB:P00439#VAR_000950 |
| Deletion | NM_000277.3(PAH):c.737del (p.Ala246fs) | PAH | Pathogenic | 12 | 103246698 | 103246698 | AG | A | criteria provided, single submitter | ClinGen:CA229729 |
| single nucleotide variant | NM_000277.3(PAH):c.739G>A (p.Gly247Ser) | PAH | Likely pathogenic | 12 | 103246696 | 103246696 | C | T | reviewed by expert panel | ClinGen:CA229730 |
| single nucleotide variant | NM_000277.3(PAH):c.739G>C (p.Gly247Arg) | PAH | Likely pathogenic | 12 | 103246696 | 103246696 | C | G | reviewed by expert panel | ClinGen:CA229732 |
| single nucleotide variant | NM_000277.3(PAH):c.740G>T (p.Gly247Val) | PAH | Pathogenic/Likely pathogenic | 12 | 103246695 | 103246695 | C | A | criteria provided, multiple submitters, no conflicts | UniProtKB:P00439#VAR_000953,ClinGen:CA229736 |
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